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ALL / Respiratory Medicine

Cystic fibrosis: features

Cystic fibrosis: features

Presenting features
  • neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
  • recurrent chest infections (40%)
  • malabsorption (30%): steatorrhoea, failure to thrive
  • other features (10%): liver disease

Whilst many patients are picked up during newborn screening programmes or early childhood, it is worth remembering that around 5% of patients are diagnosed after the age of 18 years.

Other features of cystic fibrosis
  • short stature
  • diabetes mellitus
  • delayed puberty
  • rectal prolapse (due to bulky stools)
  • nasal polyps
  • male infertility, female subfertility

Pathophysiology of cystic fibrosis
+PassMedicine Notes
Presenting features
  • neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
  • recurrent chest infections (40%)
  • malabsorption (30%): steatorrhoea, failure to thrive
  • other features (10%): liver disease

Whilst many patients are picked up during newborn screening programmes or early childhood, it is worth remembering that around 5% of patients are diagnosed after the age of 18 years.

Other features of cystic fibrosis
  • short stature
  • diabetes mellitus
  • delayed puberty
  • rectal prolapse (due to bulky stools)
  • nasal polyps
  • male infertility, female subfertility


Media
Cystic fibrosis
Osmosis - YouTube
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Cystic fibrosis
YouTube
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